Hermaphrodism and Sex Reversal Associated with the Dominant Hemimelia Mutation in XY Mice

Overview

Journal Proc Jpn Acad Ser B Phys Biol Sci

Specialties Biology
Science

Date 2009 Oct 20

PMID 19838013

Authors

Jun-Ichi Suto

Affiliations

Soon will be listed here.

Abstract

After two generations of backcrossing six different Y-consomic strains onto a C57BL/6J inbred mouse strain with a dominant hemimelia (Dh) mutation, a small percentage of Dh/+ males containing a Y chromosome from the AKR/J or RF/J strain showed hermaphrodism; they lacked the right testis and had an ovary and a uterus instead. Approximately 15% of Dh/+ females considered to be phenotypically normal had the Sry gene from the AKR/J or RF/J strain; they were actually sex-reversed XY females. Backcrossing of Y chromosomes from BALB/cA, C3H/HeJ, C57BL/6J, DH/Sgn, and DDD/Sgn onto the C57BL/6J strain with Dh did not result in hermaphrodism or sex reversal in adult mice. Subsequent linkage mapping analysis revealed that at least one C57BL/6J-derived homozygous allele at a locus on chromosome 13 was required for hermaphrodism and sex reversal. This condition was genetically distinct from known inherited sex-reversal conditions. It therefore offers a novel opportunity to investigate the genetic basis of sex determination in mammals.

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